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1.  Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation 
Background and Purpose
Given the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations.
Methods
Familial and sporadic PKD patients were enrolled and PRRT2 gene sequencing was performed. Demographic and clinical data were compared between PKD patients with and without a PRRT2 mutation.
Results
Among the enrolled PKD patients (8 patients from 5 PKD families and 19 sporadic patients), PRRT2 mutations were detected in 3 PKD families (60%) and 2 sporadic cases (10.5%). All familial patients with a PRRT2 gene mutation had the c.649dupC mutation, which is the most commonly reported mutation. Two uncommon mutations (c.649delC and c.629dupC) were detected only in the sporadic cases. PKD patients with PRRT2 mutation were younger at symptom onset and had more non-dyskinetic symptoms than those without PRRT2 mutation. However, the characteristics of dyskinetic movement did not differ between the two groups.
Conclusions
This is the first study of PRRT2 mutations in Korea. The presence of a PRRT2 mutation was more strongly related to familial PKD, and was clinically related with earlier age of onset and common non-dyskinetic symptoms in PKD patients.
doi:10.3988/jcn.2014.10.1.50
PMCID: PMC3896649  PMID: 24465263
paroxysmal dyskinesia; paroxysmal; dyskinesia; chorea; dystonia; PRRT2
2.  The Efficacy and Tolerability of Rufinamide in Intractable Pediatric Epilepsy 
Journal of Epilepsy Research  2012;2(2):33-37.
Background and Purpose:
Rufinamide (RUF) is a novel antiepileptic drug (AED) and its efficacy has been proven in Lennox-Gastaut syndrome (LGS). However, there is a lack of data regarding the efficacy in pediatric intractable epilepsies other than LGS. The purpose of the study was to explore the efficacy and tolerability of RUF in pediatric patients with intractable epilepsies as well as LGS.
Methods:
This retrospective observation study was conducted in Samsung medical center from August 2010 to September 2011. Thirty seven patients (27 males, 10 females, aged between 1.8 and 18.4 years), with refractory epilepsies or LGS were treated with RUF as an adjunctive drug. Efficacy was represented by the response rate and retention rate over the study period. Tolerability was measured as the number of patients who showed adverse effects.
Results:
The overall response rate was 21.6% during the 12 months of the study period with 5.4% of seizure-free patients. The retention rate was 54% and ineffectiveness was the most common reason for discontinuation of RUF. The most common adverse effects were insomnia and somnolence.
Conclusions:
RUF may be considered to be an efficacious and safe AED for pediatric patients with intractable epilepsies as well as LGS.
doi:10.14581/jer.12009
PMCID: PMC3952322  PMID: 24649460
Rufinamide; Efficacy; Children
3.  Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea 
Journal of Korean Medical Science  2012;27(3):274-280.
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.
doi:10.3346/jkms.2012.27.3.274
PMCID: PMC3286774  PMID: 22379338
Gene Amplification; Duchenne/Becker Muscular Dystrophy; Deletion; Duplication
4.  Improved Outcome of Central Nervous System Germ Cell Tumors: Implications for the Role of Risk-adapted Intensive Chemotherapy 
Journal of Korean Medical Science  2010;25(3):458-465.
To determine the impact of treatment protocols on the outcome of central nervous system germ cell tumors (CNS-GCTs), we reviewed the medical records of 53 patients who received front-line chemotherapy from September 1997 to September 2006. Pure germinoma, normal alpha-fetoprotein level and beta-human chorionic gonadotropin level <50 mIU/mL were regarded as low-risk features and the others as high-risk. Patients from different time periods were divided into 3 groups according to the chemotherapy protocols. Group 1 (n=19) received 4 cycles of chemotherapy comprising cisplatin, etoposide and bleomycin. Group 2 (n=16) and group 3 (n=18) received 4 cycles of chemotherapy with cisplatin, etoposide, cyclophosphamide and vincristine in the former and with carboplatin, etoposide, cyclophosphamide and bleomycin in the latter. In group 2 and group 3, high-risk patients received double doses of cisplatin, carboplatin and cyclophosphamide. Radiotherapy was given after chemotherapy according to the clinical requirements. The event-free survivals of groups 1, 2, and 3 were 67.0%, 93.8%, and 100%, respectively (group 1 vs. 2, P=0.06; group 2 vs. 3, P=0.29; group 1 vs. 3, P=0.02). Our data suggest that risk-adapted intensive chemotherapy may improve the outcome of patients with malignant CNS-GCTs.
doi:10.3346/jkms.2010.25.3.458
PMCID: PMC2826748  PMID: 20191048
Neoplasms, Germ Cell and Embryonal; Central Nervous System; Drug Therapy; Survival

Results 1-4 (4)